ClinVar Miner

List of variants studied for hereditary hyperekplexia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004211.5(SLC6A5):c.342C>G (p.Pro114=) rs61736605 0.00773
NM_020806.5(GPHN):c.800A>G (p.Asn267Ser) rs41285470 0.00586
NM_001321967.2(ATAD1):c.657C>G (p.Leu219=) rs116195084 0.00347
NM_000171.4(GLRA1):c.1296G>T (p.Met432Ile) rs141039714 0.00034
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val) rs56110425 0.00016
NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr) rs121908539 0.00016
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser) rs376426309 0.00009
NM_000171.4(GLRA1):c.1325G>A (p.Arg442His) rs200130685 0.00006
NM_020806.5(GPHN):c.826C>T (p.Arg276Trp) rs777009433 0.00004
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter) rs752254977 0.00002
NM_000171.4(GLRA1):c.22C>T (p.Arg8Ter) rs1296531416 0.00001
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met) rs781570584 0.00001
NM_001321967.2(ATAD1):c.1070_1071del (p.His357fs) rs751499706 0.00001
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly) rs1394345886 0.00001
NM_000171.4(GLRA1):c.1204GAG[1] (p.Glu403del) rs767780037
NM_000171.4(GLRA1):c.298del (p.Arg100fs) rs281864915
NM_000824.5(GLRB):c.298-19G>T rs371067472
NM_000824.5(GLRB):c.904+4A>T rs76714257
NM_000824.5(GLRB):c.904+5G>T
NM_001321967.2(ATAD1):c.-48C>G
NM_001321967.2(ATAD1):c.160C>G (p.Gln54Glu)
NM_020806.5(GPHN):c.127G>A (p.Val43Ile) rs117256383
NM_020806.5(GPHN):c.1797T>C (p.Asp599=) rs41285476

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